Variant report

Variant	rs9983642
Chromosome Location	chr21:37972406-37972407
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37970149..37972535-chr21:37972835..37974907,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11910519	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12386295	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12482375	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13047871	0.84[ASN][1000 genomes]
rs13050224	0.86[ASN][1000 genomes]
rs13050577	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13051386	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2032150	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2409822	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2734392	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2734393	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2835390	0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2835394	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2835397	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2835399	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2835400	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2845783	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2845784	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2845785	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2845786	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2850085	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34053958	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34521064	0.95[ASN][1000 genomes]
rs367166	0.80[CHB][hapmap]
rs377483	0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs377777	0.84[ASN][1000 genomes]
rs382620	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs386394	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs386752	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs390584	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs397996	0.81[CHB][hapmap]
rs399711	0.81[CHB][hapmap]
rs400019	0.81[CHB][hapmap]
rs400544	0.81[CHB][hapmap]
rs400731	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs405828	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs412510	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs412775	0.80[CHB][hapmap]
rs413616	0.80[CHB][hapmap]
rs419513	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs420352	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs420885	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs420925	0.80[CHB][hapmap]
rs426275	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs430159	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs431530	0.80[CHB][hapmap]
rs431741	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs432137	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs432294	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs432706	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4372989	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs437724	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs438064	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs438492	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs441389	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs441524	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs445103	0.80[CHB][hapmap]
rs448482	0.81[CHB][hapmap]
rs448849	0.80[CHB][hapmap]
rs450932	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs451243	0.81[CHB][hapmap]
rs4528850	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7275576	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7280686	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7281637	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs876780	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9305597	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2762111	chr21:37967924-38023546	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37965600-37973000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:37970600-37974800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr21:37972200-37973400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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